The selective RNA-binding protein FMRP forms a messenger ribonucleoprotein complex that associates with polyribosomes, suggesting that it is involved in ...

The FXR1 gene encodes an RNA-binding protein involved in posttranscriptional mRNA regulation. FXR1 belongs to a family of homologous genes, including FMR1 ...

In most cases, the disorder is caused by the unstable expansion of a CGG repeat in the FMR1 gene and abnormal methylation, which results in suppression of FMR1 ...

Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and ...

Fragile X syndrome (300624) is directly associated with the FMR1 gene (309550) at Xq27.3. FMR1 is an RNA-binding protein, and mutations in the gene are ...

Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and ...

Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and ...

Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and ...

FXTAS results form a toxic gain of function of FMR1 RNA, whereas fragile X syndrome results from a loss of FMR1 function. The penetrance of FXTAS in male ...

Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and ...